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NM_003000.3(SDHB):c.479A>C (p.Lys160Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 13, 2019
Accession:
VCV000956925.2
Variation ID:
956925
Description:
single nucleotide variant
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NM_003000.3(SDHB):c.479A>C (p.Lys160Thr)

Allele ID
941576
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17027810 (GRCh38) GRCh38 UCSC
1: 17354305 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_316:g.31361A>C
LRG_316t1:c.479A>C
NC_000001.10:g.17354305T>G
... more HGVS
Protein change
K160T
Other names
-
Canonical SPDI
NC_000001.11:17027809:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 13, 2019 RCV001229816.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDHB Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
789 819

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 13, 2019)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV001402273.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces lysine with threonine at codon 160 of the SDHB protein (p.Lys160Thr). The lysine residue is highly conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021